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A nucleotide change could initiate fragile X syndromeResearchers reveal how the alteration of a single nucleotide—the basic building block of DNA—could initiate fragile X syndrome, the most common inherited form of intellectual disability. The study appears in The Journal of Cell Biology.http://medicalxpress.com/news/2014-09-nucleotide-fragile-syndrome.html
GeneticsMon, 01 Sep 2014 09:45:47 ESTnews328783541Progressive neurodegenerative disorder linked to R-loop formationResearchers at UC Davis have identified a new feature of the genetic mutation responsible for the progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS)—the formation of "R-loops," which they believe may be associated with the disorder's neurological symptoms, such as tremors, lack of balance, features of Parkinsonism, and cognitive decline.http://medicalxpress.com/news/2014-04-neurodegenerative-disorder-linked-r-loop-formation.html
GeneticsThu, 17 Apr 2014 17:00:04 ESTnews316967815Common gene known to cause inherited autism now linked to specific behaviors(Medical Xpress)—The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and understand the damage it does in misshaping the brain's synapses—the connections between neurons. But how this abnormal shaping of synapses translates into abnormal behavior is unclear.http://medicalxpress.com/news/2013-06-common-gene-inherited-autism-linked.html
NeuroscienceTue, 04 Jun 2013 08:29:51 ESTnews289553351Fragile X makes brain cells talk too much, research showsThe most common inherited form of mental retardation and autism, fragile X syndrome, turns some brain cells into chatterboxes, scientists at Washington University School of Medicine in St. Louis report.http://medicalxpress.com/news/2013-02-fragile-brain-cells.html
NeuroscienceWed, 20 Feb 2013 12:36:01 ESTnews280586147Genetic defect causing fragile X-related disorders more common than thoughtA single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much greater frequency than previously thought, research led by the UC Davis MIND Institute has found.http://medicalxpress.com/news/2012-12-genetic-defect-fragile-x-related-disorders.html
GeneticsThu, 20 Dec 2012 19:00:05 ESTnews275246640Boosting natural marijuana-like brain chemicals treats fragile X syndrome symptomsAmerican and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism.http://medicalxpress.com/news/2012-09-boosting-natural-marijuana-like-brain-chemicals.html
Autism spectrum disordersTue, 25 Sep 2012 11:15:47 ESTnews267790526Stem cell research paves way for progress on dealing with Fragile X retardationResearchers at the Hebrew University of Jerusalem have achieved, for the first time, the generation of neuronal cells from stem cells of Fragile X patients. The discovery paves the way for research that will examine restoration of normal gene expression in Fragile X patients.http://medicalxpress.com/news/2012-05-stem-cell-paves-fragile-retardation.html
Medical researchTue, 22 May 2012 10:53:17 ESTnews256902788Study links Fragile X Syndrome proteins and RNA editing mistakes at nerve-muscle junctionThe most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others.http://medicalxpress.com/news/2011-10-linking-fragile-syndrome-proteins-rna.html
NeuroscienceSun, 30 Oct 2011 14:00:06 ESTnews239201250